Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28793 | 86602;86603;86604 | chr2:178559755;178559754;178559753 | chr2:179424482;179424481;179424480 |
| N2AB | 27152 | 81679;81680;81681 | chr2:178559755;178559754;178559753 | chr2:179424482;179424481;179424480 |
| N2A | 26225 | 78898;78899;78900 | chr2:178559755;178559754;178559753 | chr2:179424482;179424481;179424480 |
| N2B | 19728 | 59407;59408;59409 | chr2:178559755;178559754;178559753 | chr2:179424482;179424481;179424480 |
| Novex-1 | 19853 | 59782;59783;59784 | chr2:178559755;178559754;178559753 | chr2:179424482;179424481;179424480 |
| Novex-2 | 19920 | 59983;59984;59985 | chr2:178559755;178559754;178559753 | chr2:179424482;179424481;179424480 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs727505234  |
None | 0.201 | N | 0.26 | 0.131 | 0.152612264143 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/A | rs727505234 |
None | 0.201 | N | 0.26 | 0.131 | 0.152612264143 | gnomAD-4.0.0 | 5.62684E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.82354E-06 | 0 | 1.61755E-05 |
| T/S | None | None | 0.004 | N | 0.215 | 0.101 | 0.195762928549 | gnomAD-4.0.0 | 2.07271E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.71647E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0697 | likely_benign | 0.0699 | benign | -0.496 | Destabilizing | 0.201 | N | 0.26 | neutral | N | 0.404649943 | None | None | N |
| T/C | 0.2379 | likely_benign | 0.2572 | benign | -0.287 | Destabilizing | 0.977 | D | 0.357 | neutral | None | None | None | None | N |
| T/D | 0.3132 | likely_benign | 0.3281 | benign | 0.115 | Stabilizing | 0.617 | D | 0.362 | neutral | None | None | None | None | N |
| T/E | 0.29 | likely_benign | 0.3021 | benign | 0.083 | Stabilizing | 0.447 | N | 0.365 | neutral | None | None | None | None | N |
| T/F | 0.1914 | likely_benign | 0.1986 | benign | -0.783 | Destabilizing | 0.85 | D | 0.435 | neutral | None | None | None | None | N |
| T/G | 0.1636 | likely_benign | 0.1648 | benign | -0.699 | Destabilizing | 0.447 | N | 0.365 | neutral | None | None | None | None | N |
| T/H | 0.2328 | likely_benign | 0.2501 | benign | -0.987 | Destabilizing | 0.977 | D | 0.413 | neutral | None | None | None | None | N |
| T/I | 0.1047 | likely_benign | 0.1129 | benign | -0.064 | Destabilizing | 0.002 | N | 0.193 | neutral | N | 0.417445882 | None | None | N |
| T/K | 0.2367 | likely_benign | 0.2509 | benign | -0.519 | Destabilizing | 0.447 | N | 0.361 | neutral | None | None | None | None | N |
| T/L | 0.0923 | likely_benign | 0.0955 | benign | -0.064 | Destabilizing | 0.25 | N | 0.323 | neutral | None | None | None | None | N |
| T/M | 0.0835 | likely_benign | 0.0851 | benign | 0.039 | Stabilizing | 0.85 | D | 0.355 | neutral | None | None | None | None | N |
| T/N | 0.1133 | likely_benign | 0.115 | benign | -0.341 | Destabilizing | 0.681 | D | 0.319 | neutral | N | 0.44655528 | None | None | N |
| T/P | 0.3964 | ambiguous | 0.3691 | ambiguous | -0.176 | Destabilizing | 0.896 | D | 0.367 | neutral | N | 0.50920125 | None | None | N |
| T/Q | 0.247 | likely_benign | 0.2569 | benign | -0.477 | Destabilizing | 0.85 | D | 0.36 | neutral | None | None | None | None | N |
| T/R | 0.1934 | likely_benign | 0.2106 | benign | -0.308 | Destabilizing | 0.85 | D | 0.37 | neutral | None | None | None | None | N |
| T/S | 0.0944 | likely_benign | 0.0927 | benign | -0.567 | Destabilizing | 0.004 | N | 0.215 | neutral | N | 0.401318849 | None | None | N |
| T/V | 0.0905 | likely_benign | 0.0956 | benign | -0.176 | Destabilizing | 0.009 | N | 0.143 | neutral | None | None | None | None | N |
| T/W | 0.5002 | ambiguous | 0.5278 | ambiguous | -0.799 | Destabilizing | 0.992 | D | 0.451 | neutral | None | None | None | None | N |
| T/Y | 0.2197 | likely_benign | 0.2352 | benign | -0.529 | Destabilizing | 0.972 | D | 0.425 | neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.